Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation

Conclusion
PAH due to TBX4 mutations may occur with or without skeletal abnormalities across a broad age range from birth to late adulthood. PAH is usually severe and associated with bronchial and parenchymal abnormalities.

Source: European Respiratory Journal - May 13, 2020 Category: Respiratory Medicine Authors: Thore, P., Girerd, B., Jaïs, X., Savale, L., Ghigna, M.-R., Eyries, M., Levy, M., Ovaert, C., Servettaz, A., Guillaumot, A., Dauphin, C., Chabanne, C., Boiffard, E., Cottin, V., Perros, F., Simonneau, G., Sitbon, O., Soubrier, F., Bonnet, D., Remy Tags: Genetics, Pulmonary vascular disease Original Articles: Pulmonary hypertension and genetics Source Type: research